Incidental Mutation 'R4837:Nfkb2'
ID 374379
Institutional Source Beutler Lab
Gene Symbol Nfkb2
Ensembl Gene ENSMUSG00000025225
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100
Synonyms p52, NF kappaB2
MMRRC Submission 042452-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R4837 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46292759-46300824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46296006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 170 (E170D)
Ref Sequence ENSEMBL: ENSMUSP00000107512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041391] [ENSMUST00000073116] [ENSMUST00000096029] [ENSMUST00000111881] [ENSMUST00000224556] [ENSMUST00000225323]
AlphaFold Q9WTK5
Predicted Effect probably benign
Transcript: ENSMUST00000041391
SMART Domains Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126

DomainStartEndE-ValueType
low complexity region 48 63 N/A INTRINSIC
low complexity region 79 99 N/A INTRINSIC
low complexity region 329 368 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
Sec7 519 708 5.08e-75 SMART
low complexity region 714 724 N/A INTRINSIC
low complexity region 736 744 N/A INTRINSIC
PH 757 871 1.87e-13 SMART
Blast:Sec7 900 952 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000073116
AA Change: E170D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: E170D

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 40 220 1.3e-67 PFAM
IPT 227 326 3.48e-27 SMART
low complexity region 351 382 N/A INTRINSIC
low complexity region 391 409 N/A INTRINSIC
ANK 487 522 5.58e1 SMART
ANK 526 555 9.78e-4 SMART
ANK 559 591 3.74e0 SMART
ANK 599 628 3.36e-2 SMART
ANK 633 663 1.3e1 SMART
ANK 667 696 4.26e-4 SMART
low complexity region 707 721 N/A INTRINSIC
ANK 729 758 2.35e3 SMART
DEATH 764 851 5.52e-16 SMART
low complexity region 879 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096029
SMART Domains Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126

DomainStartEndE-ValueType
low complexity region 48 63 N/A INTRINSIC
low complexity region 79 99 N/A INTRINSIC
low complexity region 329 368 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
Sec7 520 709 5.08e-75 SMART
low complexity region 715 725 N/A INTRINSIC
low complexity region 737 745 N/A INTRINSIC
PH 758 872 1.87e-13 SMART
Blast:Sec7 901 953 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111881
AA Change: E170D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: E170D

DomainStartEndE-ValueType
Pfam:RHD 40 220 1.3e-67 PFAM
IPT 227 326 3.48e-27 SMART
low complexity region 351 382 N/A INTRINSIC
low complexity region 391 409 N/A INTRINSIC
ANK 487 522 5.58e1 SMART
ANK 526 555 9.78e-4 SMART
ANK 559 591 3.74e0 SMART
ANK 599 628 3.36e-2 SMART
ANK 633 663 1.3e1 SMART
ANK 667 696 4.26e-4 SMART
low complexity region 707 721 N/A INTRINSIC
ANK 729 758 2.35e3 SMART
DEATH 764 851 5.52e-16 SMART
low complexity region 879 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224556
Predicted Effect probably benign
Transcript: ENSMUST00000225323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225748
Meta Mutation Damage Score 0.0839 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit gastric hyperplasia, enlarged lymph nodes, enhanced cytokine production by activated T cells, absence of Peyer's patches, increased susceptibility to Leishmania major, and early postnatal mortality. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(5) Chemically induced(2)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,846,203 (GRCm39) H618L probably benign Het
Adgrl3 A G 5: 81,914,081 (GRCm39) T1230A probably benign Het
Ahnak2 A G 12: 112,749,359 (GRCm39) S203P probably benign Het
Allc A G 12: 28,609,308 (GRCm39) V244A probably benign Het
Ap3m1 G A 14: 21,087,225 (GRCm39) P157L probably damaging Het
Arhgef2 T G 3: 88,540,250 (GRCm39) I97S probably damaging Het
Btaf1 C A 19: 36,944,185 (GRCm39) T398K probably benign Het
Cabp1 T C 5: 115,311,212 (GRCm39) M158V probably damaging Het
Ccdc162 G A 10: 41,549,863 (GRCm39) P340L probably benign Het
Ccdc168 G A 1: 44,100,594 (GRCm39) T168I possibly damaging Het
Clip4 A G 17: 72,141,217 (GRCm39) K524E probably damaging Het
Cltc A G 11: 86,586,474 (GRCm39) V189A probably benign Het
Cmc2 A G 8: 117,620,879 (GRCm39) F34S probably damaging Het
Ctcfl G T 2: 172,955,449 (GRCm39) T271N probably benign Het
Cyp4f16 T A 17: 32,761,738 (GRCm39) F124I possibly damaging Het
Ddx41 C A 13: 55,679,461 (GRCm39) R479L possibly damaging Het
Dgcr6 C A 16: 17,884,710 (GRCm39) N87K possibly damaging Het
Dll1 A G 17: 15,589,121 (GRCm39) L518P probably damaging Het
Dnaja4 G T 9: 54,617,928 (GRCm39) M263I probably benign Het
Dusp13b T A 14: 21,793,593 (GRCm39) probably benign Het
Fam185a T A 5: 21,685,375 (GRCm39) I357N probably benign Het
Fam186a T C 15: 99,838,678 (GRCm39) Y2522C unknown Het
Fam222a T A 5: 114,732,458 (GRCm39) C4* probably null Het
Filip1 T C 9: 79,726,741 (GRCm39) D626G probably damaging Het
Ghrhr C T 6: 55,365,172 (GRCm39) R389C probably damaging Het
Gstm3 T A 3: 107,871,531 (GRCm39) T217S probably benign Het
Gucy2g T C 19: 55,214,485 (GRCm39) T548A probably benign Het
Hectd3 T A 4: 116,859,794 (GRCm39) C744S probably null Het
Hnrnpl T C 7: 28,516,762 (GRCm39) S184P probably benign Het
Il3 G A 11: 54,158,083 (GRCm39) probably benign Het
Itga5 C T 15: 103,262,511 (GRCm39) G330S probably damaging Het
Kl A G 5: 150,904,312 (GRCm39) T355A possibly damaging Het
Lipk A C 19: 34,009,720 (GRCm39) S208R probably damaging Het
Mrs2 T A 13: 25,183,040 (GRCm39) probably null Het
Mutyh A G 4: 116,674,887 (GRCm39) E372G probably damaging Het
Myh4 C A 11: 67,149,818 (GRCm39) A1821D probably benign Het
Nlrp12 T C 7: 3,279,693 (GRCm39) E881G probably damaging Het
Nol9 T C 4: 152,136,552 (GRCm39) probably benign Het
Nwd1 A G 8: 73,383,759 (GRCm39) E52G probably damaging Het
Opn4 A G 14: 34,318,261 (GRCm39) V242A probably damaging Het
Or4e1 A T 14: 52,701,103 (GRCm39) M121K probably damaging Het
Or4k44 T A 2: 111,368,319 (GRCm39) H105L probably damaging Het
Or5m13 A G 2: 85,748,748 (GRCm39) T160A probably benign Het
Or6b1 T G 6: 42,814,783 (GRCm39) probably null Het
Or6b2b A G 1: 92,418,697 (GRCm39) V260A probably benign Het
Paxbp1 G A 16: 90,831,866 (GRCm39) Q341* probably null Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pcdhb18 G A 18: 37,622,867 (GRCm39) V66M probably damaging Het
Pikfyve A G 1: 65,285,749 (GRCm39) E951G possibly damaging Het
Plcg1 A G 2: 160,592,906 (GRCm39) N179S probably benign Het
Prr11 A C 11: 86,989,517 (GRCm39) S285A probably benign Het
Ranbp17 A G 11: 33,278,451 (GRCm39) S139P probably damaging Het
Rasa4 G A 5: 136,120,664 (GRCm39) probably null Het
Rnf213 G C 11: 119,333,589 (GRCm39) G2934R probably benign Het
Rpap1 A G 2: 119,608,732 (GRCm39) V210A probably benign Het
Rpn1 T A 6: 88,067,187 (GRCm39) N182K probably benign Het
Rps24 C T 14: 24,541,855 (GRCm39) T14I possibly damaging Het
Rrp12 C T 19: 41,865,944 (GRCm39) probably null Het
Rttn T A 18: 89,108,539 (GRCm39) probably null Het
Rufy1 A G 11: 50,292,320 (GRCm39) S490P probably damaging Het
Sec62 T A 3: 30,864,018 (GRCm39) M100K unknown Het
Spata16 A G 3: 26,787,081 (GRCm39) H253R possibly damaging Het
Srcap T C 7: 127,158,134 (GRCm39) probably benign Het
Srrm1 A G 4: 135,072,823 (GRCm39) probably benign Het
Tbcd G A 11: 121,473,611 (GRCm39) probably null Het
Tedc2 C A 17: 24,439,567 (GRCm39) A25S probably damaging Het
Tnr A T 1: 159,512,358 (GRCm39) probably benign Het
Tnxb A C 17: 34,936,981 (GRCm39) D3730A probably damaging Het
Tor2a G A 2: 32,650,609 (GRCm39) G201D probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Vmn1r211 G T 13: 23,036,296 (GRCm39) Q124K probably benign Het
Wasf3 T C 5: 146,397,788 (GRCm39) V185A probably benign Het
Zbtb12 A G 17: 35,114,985 (GRCm39) T257A probably benign Het
Other mutations in Nfkb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
xander APN 19 0 () splice acceptor site
IGL01466:Nfkb2 APN 19 46,296,455 (GRCm39) missense probably damaging 0.96
IGL01791:Nfkb2 APN 19 46,298,278 (GRCm39) unclassified probably benign
IGL01966:Nfkb2 APN 19 46,298,129 (GRCm39) missense probably benign 0.04
IGL03296:Nfkb2 APN 19 46,298,367 (GRCm39) missense probably damaging 1.00
Dolores UTSW 19 46,296,662 (GRCm39) missense possibly damaging 0.86
Gawk UTSW 19 46,295,304 (GRCm39) missense probably damaging 1.00
haze UTSW 19 46,295,873 (GRCm39) missense possibly damaging 0.93
humbert UTSW 19 46,295,880 (GRCm39) missense possibly damaging 0.86
lolita UTSW 19 46,296,159 (GRCm39) critical splice donor site probably null
Nabukov UTSW 19 46,296,878 (GRCm39) missense probably damaging 0.99
pale_fire UTSW 19 46,300,065 (GRCm39) missense possibly damaging 0.96
Quilty UTSW 19 46,297,082 (GRCm39) missense possibly damaging 0.64
R0270:Nfkb2 UTSW 19 46,300,065 (GRCm39) missense possibly damaging 0.96
R0561:Nfkb2 UTSW 19 46,298,301 (GRCm39) missense possibly damaging 0.93
R1944:Nfkb2 UTSW 19 46,296,491 (GRCm39) missense probably damaging 1.00
R2217:Nfkb2 UTSW 19 46,296,163 (GRCm39) splice site probably null
R2878:Nfkb2 UTSW 19 46,295,880 (GRCm39) missense possibly damaging 0.86
R4493:Nfkb2 UTSW 19 46,296,878 (GRCm39) missense probably damaging 0.99
R4494:Nfkb2 UTSW 19 46,296,878 (GRCm39) missense probably damaging 0.99
R4495:Nfkb2 UTSW 19 46,296,878 (GRCm39) missense probably damaging 0.99
R4731:Nfkb2 UTSW 19 46,297,403 (GRCm39) missense possibly damaging 0.74
R4752:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R4753:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R4777:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R4780:Nfkb2 UTSW 19 46,298,361 (GRCm39) missense probably damaging 1.00
R4820:Nfkb2 UTSW 19 46,296,493 (GRCm39) missense probably damaging 0.99
R4839:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R5514:Nfkb2 UTSW 19 46,299,847 (GRCm39) missense probably damaging 1.00
R5519:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R5549:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R5615:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R5616:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
R5709:Nfkb2 UTSW 19 46,298,960 (GRCm39) missense probably damaging 1.00
R6053:Nfkb2 UTSW 19 46,300,251 (GRCm39) missense probably damaging 1.00
R6794:Nfkb2 UTSW 19 46,296,159 (GRCm39) critical splice donor site probably null
R7539:Nfkb2 UTSW 19 46,296,662 (GRCm39) missense possibly damaging 0.86
R7573:Nfkb2 UTSW 19 46,297,082 (GRCm39) missense possibly damaging 0.64
R7963:Nfkb2 UTSW 19 46,298,358 (GRCm39) missense possibly damaging 0.78
R8147:Nfkb2 UTSW 19 46,295,873 (GRCm39) missense possibly damaging 0.93
R8153:Nfkb2 UTSW 19 46,296,455 (GRCm39) missense probably damaging 0.96
R8241:Nfkb2 UTSW 19 46,296,054 (GRCm39) missense probably benign 0.01
R8992:Nfkb2 UTSW 19 46,295,304 (GRCm39) missense probably damaging 1.00
R9405:Nfkb2 UTSW 19 46,296,839 (GRCm39) missense probably damaging 1.00
R9549:Nfkb2 UTSW 19 46,298,111 (GRCm39) missense probably damaging 1.00
R9709:Nfkb2 UTSW 19 46,298,782 (GRCm39) missense probably benign 0.02
S24628:Nfkb2 UTSW 19 46,296,006 (GRCm39) missense probably benign 0.02
Z1177:Nfkb2 UTSW 19 46,300,029 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGTGTCCTGCATGTAACC -3'
(R):5'- AGGTATCTCAAGCGCTCTTTTGG -3'

Sequencing Primer
(F):5'- TGTCCTGCATGTAACCAAGAAG -3'
(R):5'- CAAGCGCTCTTTTGGGAATGC -3'
Posted On 2016-03-01